Canonical Allele Identifier: CA401161016

Gene: AANAT

Linked Data

• gnomAD v4: 17-76469313-G-C
• MyVariant Identifiers: chr17:g.74465395G>C (hg19) ; chr17:g.76469313G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469313G>C , CM000679.2:g.76469313G>C	GRCh38
NC_000017.10:g.74465395G>C , CM000679.1:g.74465395G>C	GRCh37
NC_000017.9:g.71976990G>C	NCBI36
NG_015976.1:g.20963G>C
NG_032852.1:g.37115C>G , LRG_532:g.37115C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.304G>C MANE Select	ENSP00000376282.2:p.Glu102Gln
ENST00000250615.7:c.439G>C	ENSP00000250615.2:p.Glu147Gln
ENST00000392492.7:c.304G>C	ENSP00000376282.2:p.Glu102Gln
ENST00000585649.1:c.418G>C	ENSP00000468717.1:p.Glu140Gln
ENST00000587798.1:c.*81G>C	ENSP00000468239.1:n.*81G>C
NM_001088.2:c.304G>C	NP_001079.1:p.Glu102Gln
NM_001166579.1:c.439G>C	NP_001160051.1:p.Glu147Gln
NR_110548.1:n.615G>C
XM_011524415.1:c.304G>C	XP_011522717.1:p.Glu102Gln
XM_011524416.1:c.511G>C	XP_011522718.1:p.Glu171Gln
XM_011524417.1:c.511G>C	XP_011522719.1:p.Glu171Gln
XM_011524418.1:c.511G>C	XP_011522720.1:p.Glu171Gln
XM_011524419.1:c.511G>C	XP_011522721.1:p.Glu171Gln
XM_011524420.1:c.511G>C	XP_011522722.1:p.Glu171Gln
XM_011524421.1:c.511G>C	XP_011522723.1:p.Glu171Gln
XM_011524422.1:c.394G>C	XP_011522724.1:p.Glu132Gln
XM_011524423.1:c.304G>C	XP_011522725.1:p.Glu102Gln
XM_017024259.1:c.418G>C	XP_016879748.1:p.Glu140Gln
NM_001088.3:c.304G>C MANE Select	NP_001079.1:p.Glu102Gln
NR_110548.2:n.560G>C
NM_001166579.2:c.439G>C	NP_001160051.1:p.Glu147Gln